Neurofibromatosis is a complex multisystem disorder caused by mutations in the neurofibromin gene. It leads to tumors along the nervous system that can develop anywhere on the body. Neurofibromatosis is one of the most common genetic conditions and follows an autosomal dominant inheritance pattern.
Common manifestations include brown‑red spots on the iris known as Lisch nodules, as well as neurofibromas. Additional features may include scoliosis (curvature of the spine), learning difficulties, visual problems, intellectual disability, multiple café au lait spots, and epilepsy.
There is currently no specific treatment available.
Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein, called neurofibromin, which is needed for normal function in many human cell types.
☆ In the 2022 Stiftung Warentest results from Germany, consumer satisfaction with ModelDerm was only slightly lower than with paid telemedicine consultations.
Cafe au lait macule seen in Neurofibromatosis type 1 (NF-1)
Neurofibromatosis is a neurocutaneous disorder characterized by tumors in the nervous system and skin. Neurofibromatosis types 1 and 2 are the most common and are distinct entities. Neurofibromatosis type 1, or von Recklinghausen disease, is an autosomal dominant disease. Neurofibromatosis type 1 presents with neurofibromas, cafe-au-lait macules, freckling, and optic gliomas. It is a clinical diagnosis. Neurofibromatosis type 2 (NF2) is a disease characterized by bilateral vestibular schwannomas (VS) and meningiomas. It has an autosomal dominant inheritance pattern. Treatment for neurofibromatosis types 1 and 2 is clinical monitoring and medical intervention when appropriate.
Common manifestations include brown‑red spots on the iris known as Lisch nodules, as well as neurofibromas. Additional features may include scoliosis (curvature of the spine), learning difficulties, visual problems, intellectual disability, multiple café au lait spots, and epilepsy.
There is currently no specific treatment available.